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Neuropediatrics 1981; 12(2): 166-180
DOI: 10.1055/s-2008-1059649
© Georg Thieme Verlag KG Stuttgart · New York

CONGENITAL MYOPATHY WITH CYTOPLASMIC BODIES

Hans H. Goebel , Henning  Schloon , Hans G. Lenard
  • Division of Neuropathology and Department of Pediatrics, University of Göttingen, Robert-Kodi-Str. 40, D-3400 Göttingen, Fed. Rep. Germany
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

Since early infancy, a 15-year-old girl had suffered from an apparently static neuromuscular disorder that chiefly afflicted her proximal muscles but did not spare her distal ones. Her CPK values had repeatedly been mildly elevated and her electromyogram had been considered "myopathic". There were no similar neuromuscular disorders in the family. Quadriceps muscle biopsy showed a type I myofiber predominance of 96 %, type I myofiber atrophy and numerous cytoplasmic bodies within myofibers suggesting that this girl's muscle disease represented "congenital myopathy with cytoplasmic bodies" as cytoplasmic bodies were recently reported in other sporadic and hereditary neuromuscular disorders of unknown origin.

Key words

Congenital myopathy - cytoplasmic bodies - filamentous bodies - ultrastructure - type I fiber predominance

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